新しいEarly Infantile Neurovisceral Lipidosis with Failure of Myelination

A New early infantile neurovisceral lipidosis with failure of myelination

Ⅰ．序

　現在までに糖脂慣蓄積症は多数知られている。形態学的に病変の部位を中心に区別してみると，神経細胞内の蓄積が主体となるもの，内臓の主として網内系細胞への蓄積が主体となるもの，および脳白質の変性が主体となるものの三つに大きく分けられる。

　私たちは中枢および末梢神経系の神経細胞内に糖脂質の蓄積を認め，かつ人脳白質に広範な変性を伴う疾患で，さらに内臓の網内系組織に脂質蓄積細胞の高度の浸潤を伴うという上記の三つのカテゴリーを包含する症例を検討する機会を得た。

An autopsy of a 5 month old infant was ex-amined by histological, histochemical, ultra-structural and biochemical methods. The patient showed poor sucking immediately after his birth which was followed in two and a half months by hepatosplenomegaly, severe anemia and opistotonic seizure. Chest X-rays disclosed severe pneumonia-like shadows. He died of respiratory distress. No cherry-red spot or gargoyl-like features were observed. Numerous large histiocytes resem-bling Gaucher cells (Fig. 1) were observed in the bone marrow smear.